Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.K297R
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MAFB

NM_005461.5:p.K297R

Associated Papers

Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations.

Fujino M et al.

Genes, 2023

37895232 (PubMed )
Supplement: genes-14-01883-s001.zip › genes-2601480-supplementary.pdf

A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.

Sato Y et al.

Kidney International, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."